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Journal Abstract Search

177 related items for PubMed ID: 7762556

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  • 5. [What significance to genotype changes have in diagnosis of malignant hyperthermia?].
    Steinfath M, Scholz J, Singh S, Wappler F.
    Anasthesiol Intensivmed Notfallmed Schmerzther; 1996 Aug; 31(6):334-43. PubMed ID: 8962927
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  • 6. Screening of the ryanodine receptor gene in 105 malignant hyperthermia families: novel mutations and concordance with the in vitro contracture test.
    Brandt A, Schleithoff L, Jurkat-Rott K, Klingler W, Baur C, Lehmann-Horn F.
    Hum Mol Genet; 1999 Oct; 8(11):2055-62. PubMed ID: 10484775
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  • 10. RYR1 mutations causing central core disease are associated with more severe malignant hyperthermia in vitro contracture test phenotypes.
    Robinson RL, Brooks C, Brown SL, Ellis FR, Halsall PJ, Quinnell RJ, Shaw MA, Hopkins PM.
    Hum Mutat; 2002 Aug; 20(2):88-97. PubMed ID: 12124989
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  • 11. Autosomal dominant canine malignant hyperthermia is caused by a mutation in the gene encoding the skeletal muscle calcium release channel (RYR1).
    Roberts MC, Mickelson JR, Patterson EE, Nelson TE, Armstrong PJ, Brunson DB, Hogan K.
    Anesthesiology; 2001 Sep; 95(3):716-25. PubMed ID: 11575546
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  • 12. Screening for mutations in the RYR1 gene in families with malignant hyperthermia.
    Muniz VP, Silva HC, Tsanaclis AM, Vainzof M.
    J Mol Neurosci; 2003 Sep; 21(1):35-42. PubMed ID: 14500992
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  • 13. A case of discordance between genotype and phenotype in a malignant hyperthermia family.
    Fortunato G, Carsana A, Tinto N, Brancadoro V, Canfora G, Salvatore F.
    Eur J Hum Genet; 1999 Sep; 7(4):415-20. PubMed ID: 10352931
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  • 14. Results of contracture tests with halothane, caffeine, and ryanodine depend on different malignant hyperthermia-associated ryanodine receptor gene mutations.
    Fiege M, Wappler F, Weisshorn R, Ulrich Gerbershagen M, Steinfath M, Schulte Am Esch J.
    Anesthesiology; 2002 Aug; 97(2):345-50. PubMed ID: 12151923
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  • 15. Ryanodine receptor gene point mutation and malignant hyperthermia susceptibility.
    Moroni I, Gonano EF, Comi GP, Tegazzin V, Prelle A, Bordoni A, Bresolin N, Scarlato G.
    J Neurol; 1995 Feb; 242(3):127-33. PubMed ID: 7751854
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  • 16. Evidence for genetic heterogeneity of malignant hyperthermia susceptibility.
    Deufel T, Golla A, Iles D, Meindl A, Meitinger T, Schindelhauer D, DeVries A, Pongratz D, MacLennan DH, Johnson KJ.
    Am J Hum Genet; 1992 Jun; 50(6):1151-61. PubMed ID: 1598899
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  • 17. Malignant hyperthermia--a large kindred linked to the RYR1 gene.
    Wallace AJ, Wooldridge W, Kingston HM, Harrison MJ, Ellis FR, Ford PM.
    Anaesthesia; 1996 Jan; 51(1):16-23. PubMed ID: 8669559
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  • 18. Mutation screening in the ryanodine receptor 1 gene (RYR1) in patients susceptible to malignant hyperthermia who show definite IVCT results: identification of three novel mutations.
    Rueffert H, Olthoff D, Deutrich C, Meinecke CD, Froster UG.
    Acta Anaesthesiol Scand; 2002 Jul; 46(6):692-8. PubMed ID: 12059893
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  • 19. Mapping of a further malignant hyperthermia susceptibility locus to chromosome 3q13.1.
    Sudbrak R, Procaccio V, Klausnitzer M, Curran JL, Monsieurs K, van Broeckhoven C, Ellis R, Heyetens L, Hartung EJ, Kozak-Ribbens G.
    Am J Hum Genet; 1995 Mar; 56(3):684-91. PubMed ID: 7887423
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  • 20. Evidence for a spontaneous C1840-T mutation in the RYR1 gene after DNA fingerprinting in a malignant hyperthermia susceptible family.
    Steinfath M, Seranski P, Singh S, Fiege M, Wappler F, Schulte Am Esch J, Scholz J.
    Naunyn Schmiedebergs Arch Pharmacol; 2002 Oct; 366(4):372-5. PubMed ID: 12237752
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